ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) (rs62145939)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080294 SCV000112189 benign not specified 2013-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000080294 SCV000519971 benign not specified 2016-02-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000080294 SCV000151033 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000279905 SCV000431834 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351217 SCV000431835 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538106 SCV000649706 benign Dysferlinopathy 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080294 SCV000309692 benign not specified criteria provided, single submitter clinical testing

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